rs9468
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs9468(C;C) |
| Make rs9468(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 46024197 |
| Gene | MAPT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9468 |
| dbSNP (classic) | rs9468 |
| ClinGen | rs9468 |
| ebi | rs9468 |
| HLI | rs9468 |
| Exac | rs9468 |
| Gnomad | rs9468 |
| Varsome | rs9468 |
| LitVar | rs9468 |
| Map | rs9468 |
| PheGenI | rs9468 |
| Biobank | rs9468 |
| 1000 genomes | rs9468 |
| hgdp | rs9468 |
| ensembl | rs9468 |
| geneview | rs9468 |
| scholar | rs9468 |
| rs9468 | |
| pharmgkb | rs9468 |
| gwascentral | rs9468 |
| openSNP | rs9468 |
| 23andMe | rs9468 |
| SNPshot | rs9468 |
| SNPdbe | rs9468 |
| MSV3d | rs9468 |
| GWAS Ctlg | rs9468 |
| GMAF | 0.1157 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 22104010
] SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population
[PMID 22027014] The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 19761364] Predicting response to short-acting bronchodilator medication using Bayesian networks.
[PMID 20116045] The distribution and most recent common ancestor of the 17q21 inversion in humans.
| ClinVar | |
|---|---|
| Risk | rs9468(C;C) |
| Alt | rs9468(C;C) |
| Reference | Rs9468(T;T) |
| Significance | Non-pathogenic |
| Disease | MAPT-Related Spectrum Disorders |
| Variation | info |
| Gene | MAPT |
| CLNDBN | MAPT-Related Spectrum Disorders |
| Reversed | 0 |
| HGVS | NC_000017.10:g.44101563T>C |
| CLNSRC | |
| CLNACC | RCV000399955.1, |
[PMID 31430546] A replication study of GWAS-genetic risk variants associated with Parkinson's disease in a Spanish population.
